Variant report

Variant	rs56274310
Chromosome Location	chr8:61573242-61573243
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:61573147-61573373	K562	blood:	n/a	chr8:61573317-61573329 chr8:61573307-61573329
2	TCF12	chr8:61573153-61573332	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:61573075-61573437	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:61573086-61573359	HUVEC	blood vessel:	n/a	chr8:61573209-61573217
5	ZNF143	chr8:61573056-61573408	K562	blood:	n/a	n/a
6	CTCF	chr8:61573011-61573455	GM12878	blood:	n/a	chr8:61573209-61573217
7	CTCF	chr8:61573180-61573330	GM12864	blood:	n/a	chr8:61573209-61573217
8	CTCF	chr8:61573140-61573290	AG09309	skin:	n/a	chr8:61573209-61573217
9	RAD21	chr8:61572910-61573566	HCT-116	colon:	n/a	chr8:61573225-61573239
10	CTCF	chr8:61573140-61573290	GM12872	blood:	n/a	chr8:61573209-61573217
11	CTCF	chr8:61573097-61573441	MCF-7	breast:	n/a	chr8:61573209-61573217
12	CTCF	chr8:61573160-61573310	MCF-7	breast:	n/a	chr8:61573209-61573217
13	CTCF	chr8:61573160-61573310	GM12873	blood:	n/a	chr8:61573209-61573217
14	CTCF	chr8:61573148-61573329	LNCaP	prostate:	n/a	chr8:61573209-61573217
15	CTCF	chr8:61573180-61573330	GM12866	blood:	n/a	chr8:61573209-61573217
16	CTCF	chr8:61573113-61573359	LNCaP	prostate:	n/a	chr8:61573209-61573217
17	CTCF	chr8:61573093-61573365	GM13977	blood:	n/a	chr8:61573209-61573217
18	CTCF	chr8:61573039-61573285	A549	lung:	n/a	chr8:61573209-61573217
19	CTCF	chr8:61573091-61573383	GM19240	blood:	n/a	chr8:61573209-61573217
20	RFX5	chr8:61573152-61573406	GM12878	blood:	n/a	n/a
21	ZNF143	chr8:61573055-61573432	GM12878	blood:	n/a	n/a
22	CTCF	chr8:61573075-61573383	K562	blood:	n/a	chr8:61573209-61573217
23	CTCF	chr8:61573140-61573290	HCT-116	colon:	n/a	chr8:61573209-61573217
24	TBP	chr8:61573133-61573504	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr8:61573153-61573340	HepG2	liver:	n/a	n/a
26	CTCF	chr8:61573086-61573415	HepG2	liver:	n/a	chr8:61573209-61573217
27	CTCF	chr8:61573180-61573330	NHEK	skin:	n/a	chr8:61573209-61573217
28	BHLHE40	chr8:61573091-61573372	K562	blood:	n/a	n/a
29	CTCF	chr8:61573160-61573310	SAEC	small airway:	n/a	chr8:61573209-61573217
30	POU2F2	chr8:61573083-61573475	GM12878	blood:	n/a	n/a
31	RAD21	chr8:61572908-61573428	HepG2	liver:	n/a	chr8:61573225-61573239
32	MAX	chr8:61573001-61573490	A549	lung:	n/a	n/a
33	CTCF	chr8:61573083-61573401	Gliobla	brain:	n/a	chr8:61573209-61573217
34	CTCF	chr8:61573101-61573376	GM10266	blood:	n/a	chr8:61573209-61573217
35	CTCF	chr8:61573140-61573290	HepG2	liver:	n/a	chr8:61573209-61573217
36	MAZ	chr8:61573113-61573338	GM12878	blood:	n/a	n/a
37	CTCF	chr8:61573086-61573374	Fibrobl	skin:	n/a	chr8:61573209-61573217
38	CTCF	chr8:61573114-61573348	GM10248	blood:	n/a	chr8:61573209-61573217
39	USF1	chr8:61573048-61573461	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:61573081-61573365	GM20000	blood:	n/a	chr8:61573209-61573217
41	RCOR1	chr8:61573078-61573465	K562	blood:	n/a	n/a
42	TBP	chr8:61573064-61573367	K562	blood:	n/a	n/a
43	CTCF	chr8:61573140-61573290	HMEC	breast:	n/a	chr8:61573209-61573217
44	ARID3A	chr8:61573150-61573315	K562	blood:	n/a	n/a
45	CTCF	chr8:61573180-61573330	BJ	skin:	n/a	chr8:61573209-61573217
46	CTCF	chr8:61573160-61573310	SK-N-SH_RA	brain:	n/a	chr8:61573209-61573217
47	CTCF	chr8:61573160-61573310	GM12878	blood:	n/a	chr8:61573209-61573217
48	RAD21	chr8:61573081-61573542	HCT-116	colon:	n/a	chr8:61573225-61573239
49	CTCF	chr8:61573180-61573330	GM12873	blood:	n/a	chr8:61573209-61573217
50	RAD21	chr8:61573102-61573340	A549	lung:	n/a	chr8:61573225-61573239

No.	Distal block	Cell Line	Cell type
1	chr8:61571219..61575228-chr8:61591571..61593615,3	MCF-7	breast:
2	chr8:61562433..61567496-chr8:61571905..61575539,5	K562	blood:
3	chr8:61562616..61568326-chr8:61569044..61575643,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255289	TF binding region
ENSG00000254869	Chromatin interaction
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2625443	0.82[AFR][1000 genomes]
rs56090478	0.90[EUR][1000 genomes]
rs58918741	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61571400-61573400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:61573000-61573400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:61573000-61573600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:61573000-61573800	Bivalent Enhancer	Fetal Thymus	thymus
5	chr8:61573200-61573400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:61573200-61573400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr8:61573200-61573400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:61573200-61573400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:61573200-61573400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:61573200-61573400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr8:61573200-61573400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:61573200-61573400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:61573200-61573400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:61573200-61573400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:61573200-61573400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:61573200-61573400	Active TSS	Brain Anterior Caudate	brain
17	chr8:61573200-61573400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr8:61573200-61573400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr8:61573200-61573400	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr8:61573200-61573600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr8:61573200-61573600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:61573200-61573600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:61573200-61573600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:61573200-61573600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr8:61573200-61573600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:61573200-61573600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr8:61573200-61573600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:61573200-61573600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:61573200-61573600	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr8:61573200-61573600	Enhancers	Liver	Liver
31	chr8:61573200-61573600	Bivalent Enhancer	Placenta	Placenta
32	chr8:61573200-61573600	Enhancers	Pancreas	Pancrea
33	chr8:61573200-61573600	Enhancers	HepG2	liver
34	chr8:61573200-61573600	Flanking Active TSS	K562	blood
35	chr8:61573200-61573800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr8:61573200-61573800	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:61573200-61573800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:61573200-61573800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:61573200-61573800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:61573200-61573800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:61573200-61574000	Bivalent Enhancer	Primary T cells from cord blood	blood

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